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    CFAP119 cilia and flagella associated protein 119 [ Homo sapiens (human) ]

    Gene ID: 90835, updated on 27-Nov-2024

    Summary

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    Official Symbol
    CFAP119provided by HGNC
    Official Full Name
    cilia and flagella associated protein 119provided by HGNC
    Primary source
    HGNC:HGNC:28078
    See related
    Ensembl:ENSG00000196118 MIM:618318; AllianceGenome:HGNC:28078
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CCDC189; C16orf93
    Summary
    Predicted to be located in acrosomal vesicle and sperm principal piece. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in testis (RPKM 10.9), bone marrow (RPKM 5.2) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CFAP119 in Genome Data Viewer
    Location:
    16p11.2
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (30757423..30762062, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (31144844..31149483, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (30768744..30773383, complement)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene Snf2 related CREBBP activator protein Neighboring gene small nucleolar RNA, H/ACA box 30 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10721 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:30749504-30750051 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr16:30752251-30753450 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7391 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7392 Neighboring gene transmembrane protein 265 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10722 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr16:30771308-30772507 Neighboring gene phosphorylase kinase catalytic subunit gamma 2 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:30772706-30772935 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10724 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:30773347-30773984 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:30775098-30775598 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:30775599-30776099 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:30780568-30780764 Neighboring gene ring finger protein 40 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:30785886-30786564 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:30786565-30787241 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10727 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10728 Neighboring gene zinc finger protein 629 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:30807171-30807374 Neighboring gene uncharacterized LOC124903679 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7394 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7395 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:30824465-30825020 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:30825021-30825575 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7396 Neighboring gene adipose secreted signaling protein pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. A splice donor variant in CCDC189 is associated with asthenospermia in Nordic Red dairy cattle. Iso-Touru T, et al. BMC Genomics, 2019 Apr 11. PMID 30975085, Free PMC Article
    2. Insights into RNA biology from an atlas of mammalian mRNA-binding proteins. Castello A, et al. Cell, 2012 Jun 8. PMID 22658674
    3. Architecture of the human interactome defines protein communities and disease networks. Huttlin EL, et al. Nature, 2017 May 25. PMID 28514442, Free PMC Article
    4. Dual proteome-scale networks reveal cell-specific remodeling of the human interactome. Huttlin EL, et al. Cell, 2021 May 27. PMID 33961781, Free PMC Article
    5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC104706

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in acrosomal vesicle ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in sperm principal piece ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    cilia- and flagella-associated protein 119
    Names
    coiled-coil domain containing 189
    coiled-coil domain-containing protein 189
    spergen-4

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001014979.3 → NP_001014979.2  cilia- and flagella-associated protein 119 isoform 1

      See identical proteins and their annotated locations for NP_001014979.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      BC063391, BC092491, BC128129
      Consensus CDS
      CCDS32434.2
      UniProtKB/Swiss-Prot
      A1A4V8, A1A4V9, F5GX13, Q569G2
      Related
      ENSP00000437532.1, ENST00000543610.6
      Conserved Domains (1) summary
      pfam14769
      Location:126 → 220
      CLAMP; Flagellar C1a complex subunit C1a-32

    2. NM_001195620.2 → NP_001182549.1  cilia- and flagella-associated protein 119 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks several exons in the coding region and uses an alternate 3' terminal exon, compared to variant 1. The resulting protein (isoform 2) has a shorter and distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      BC073881
      Consensus CDS
      CCDS55993.1
      UniProtKB/Swiss-Prot
      A1A4V9
      Related
      ENSP00000441164.1, ENST00000545825.1
      Conserved Domains (1) summary
      pfam14769
      Location:126 → 159
      CLAMP; Flagellar C1a complex subunit C1a-32

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      30757423..30762062 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047434863.1 → XP_047290819.1  cilia- and flagella-associated protein 119 isoform X5

    2. XM_017023855.3 → XP_016879344.1  cilia- and flagella-associated protein 119 isoform X2

    3. XM_017023852.3 → XP_016879341.1  cilia- and flagella-associated protein 119 isoform X1

      UniProtKB/TrEMBL
      H3BTQ9
      Related
      ENSP00000457287.1, ENST00000541260.5

    4. XM_017023856.3 → XP_016879345.1  cilia- and flagella-associated protein 119 isoform X3

    5. XM_047434865.1 → XP_047290821.1  cilia- and flagella-associated protein 119 isoform X7

    6. XM_047434864.1 → XP_047290820.1  cilia- and flagella-associated protein 119 isoform X6

    7. XM_047434862.1 → XP_047290818.1  cilia- and flagella-associated protein 119 isoform X4

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      31144844..31149483 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054314315.1 → XP_054170290.1  cilia- and flagella-associated protein 119 isoform X5

    2. XM_054314312.1 → XP_054170287.1  cilia- and flagella-associated protein 119 isoform X2

    3. XM_054314311.1 → XP_054170286.1  cilia- and flagella-associated protein 119 isoform X1

    4. XM_054314313.1 → XP_054170288.1  cilia- and flagella-associated protein 119 isoform X3

    5. XM_054314317.1 → XP_054170292.1  cilia- and flagella-associated protein 119 isoform X7

    6. XM_054314316.1 → XP_054170291.1  cilia- and flagella-associated protein 119 isoform X6

    7. XM_054314314.1 → XP_054170289.1  cilia- and flagella-associated protein 119 isoform X4

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A1A4V9.1 GenPept UniProtKB/Swiss-Prot:A1A4V9

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